Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population
Front Endocrinol (Lausanne). 2022 May 6;13:887371. doi: 10.3389/fendo.2022.887371. eCollection 2022.
Carol-Ann Fortin 1, Lysanne Girard 1, Chloé Bonenfant 1, Josianne Leblanc 2, Tania Cruz-Marino 2, Marie-Eve Blackburn 3, Mathieu Desmeules 4 5, Luigi Bouchard 1 2
Region in Quebec
Background: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SLSJ) region due to a founder effect. Daily intake of calcitriol before the onset of clinical manifestations can prevent them in affected children.
Methods: A genetic screening test was developed and validated for the CYP27B1 gene c.262del pathogenic variant. Newborn screening was implemented in the SLSJ region for this variant, and the feasibility and acceptability were assessed. Sixteen medical records of children affected with VDDR1A were reviewed to document the consequences of the disease at diagnosis.
Results: A total of 2000 newborns were tested for VDDR1A. Most families (96.5%) accepted the genetic test. We found a carrier rate of 1/29 for the c.262delG variant in our cohort, which is suggestive of a founder effect. We identified one child affected with VDDR1A and treatment was initiated before the onset of clinical manifestations. On average, children with VDDR1A were diagnosed at 13.8 ± 5 months of age, they had a significant failure to thrive at diagnosis, among other harmful health consequences.
Conclusion: Our study showed that in our population, the newborn genetic screening program is safe and feasible, it has high acceptability, and it is efficient to identify affected children. VDDR1A health consequences can be prevented by early initiation of treatment. Therefore, screening programs should be available for populations where it is deemed as beneficial from a public health perspective.
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VitaminDWiki - CYP27B1 category contains
The CYP27B1 gene activates Vitamin D in the Kidney, Skin, Lungs, Brain, Eyes Breasts etc.
Poor CYP27B1 is assocated with COVID, Miscarriage, Lupus, Alz, Parkinson, MSA, Rickets
CYtochrome P450 family 27 subfamily B member 1 = 25-Hydroxyvitamin D3 1-alpha-hydroxylase
63 items in CYP27B1 category 342 articles in the Genetics 523 articles in Vitamin D Receptor 177 articles in Vitamin D Binding Protein - CYP27B1 and other genes are less activated in seniors
- CYP27B causes many health problems – March 2020
- Every Parkinson’s brain had a poor CYP27B1 gene
What can be done if have a poor CYP27B1
- Larger doses of Vitamin D
- More Bio-available: Gut-friendly form, Topical form, taken with fatty meal, taken with evening meal
- Additional sources: UV
- Increase Vitamin D metabolism: additional Magnesium, Omega-3
- All cytochrome P450 enzymes require Mg++ as a cofactor
- Increase the amount of Vitamin D in the blood that gets to cells: increase activation of VDR
Vitamin D blood test misses CYP27B1 and other genes
VitaminDWiki - Overview of Rickets and vitamin D contains
Rate of rickets is usually < 0.1% of births, unless dark skin, breastfed, preemie, twin, Mongolian, or Russian
Rickets category has
Rate of rickets has greatly increased with the drop in vitamin D levels during the past 40 years
400 IU can prevent/treat most rickets Turkey gave vitamin D to EVERY child and eliminated Rickets
Can have rickets without a low serum level of vitamin D (~20% of the time)
Giving enough Vitamin D to the mother (before and after birth) PREVENTS most forms of Rickets
Rate of rickets in some countries varies from 10% to 70% (typically poor health overall)
Rickets has been more than doubling in many countries
Rickets is strongly associated with severe breathing problems (weak ribs)
Bowed legs is not the primary indication of rickets (3 other indications of rickets are seen more often)
Rickets is typically due to low cellular Vitamin D - April 2024
Some Rickets is due to poor genes - Vitamin D needed lifelong – June 2020
Vitamin D and Rickets consensus took 80 years128 items
Poor Vitamin D gene activation that results in rickets etc, (CYP27B1: 1 in 30 people in a region of Quebec) – May 20221970 visitors, last modified 23 May, 2022, This page is in the following categories (# of items in each category)Attached files
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